Short-rib thoracic dysplasia with or without polydactyly 14
Short-rib thoracic dysplasia with or without polydactyly type 14 is an autosomal recessive disorder caused by mutations in the KIAA0586 gene.
Alby C et. al. (2015) Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.[^]
Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.[^]
Huber C et. al. (2012) Ciliary disorder of the skeleton.[^]